Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.L286F
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DYRK1A

NM_001347721.2:p.L286F

Associated Papers

DYRK1A syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype.

Lin S et al.

Ophthalmic Genetics, 2025

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

Earl RK et al.

Molecular Autism, 2017

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

Luco SM et al.

Bmc Medical Genetics, 2016

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

Ji J et al.

European Journal of Human Genetics : Ejhg, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."